Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02391:Wipf1'

293840

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wipf1

Ensembl Gene

ENSMUSG00000075284

Gene Name

WAS/WASL interacting protein family, member 1

Synonyms

WIP, D2Ertd120e, Waspip

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

IGL02391

Quality Score

Status

Chromosome

Chromosomal Location

73429610-73529734 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 73434143 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 438 (D438V)

Ref Sequence

ENSEMBL: ENSMUSP00000099741 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094681] [ENSMUST00000102679] [ENSMUST00000102680] [ENSMUST00000141264]

AlphaFold

Q8K1I7

Predicted Effect

probably damaging
Transcript: ENSMUST00000094681
AA Change: D438V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000092268
Gene: ENSMUSG00000075284
AA Change: D438V

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
WH2	32	49	9.78e-4	SMART
low complexity region	64	108	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
low complexity region	185	196	N/A	INTRINSIC
low complexity region	232	249	N/A	INTRINSIC
low complexity region	274	317	N/A	INTRINSIC
low complexity region	329	374	N/A	INTRINSIC
low complexity region	398	424	N/A	INTRINSIC
PDB:2IFS\|A	441	470	1e-11	PDB
low complexity region	471	484	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102679
AA Change: D438V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099740
Gene: ENSMUSG00000075284
AA Change: D438V

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
WH2	32	49	9.78e-4	SMART
low complexity region	64	108	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
low complexity region	185	196	N/A	INTRINSIC
low complexity region	232	249	N/A	INTRINSIC
low complexity region	274	317	N/A	INTRINSIC
low complexity region	329	374	N/A	INTRINSIC
low complexity region	398	424	N/A	INTRINSIC
PDB:2IFS\|A	441	470	1e-11	PDB
low complexity region	471	484	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102680
AA Change: D438V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099741
Gene: ENSMUSG00000075284
AA Change: D438V

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
WH2	32	49	9.78e-4	SMART
low complexity region	64	108	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
low complexity region	185	196	N/A	INTRINSIC
low complexity region	232	249	N/A	INTRINSIC
low complexity region	274	317	N/A	INTRINSIC
low complexity region	329	374	N/A	INTRINSIC
low complexity region	398	424	N/A	INTRINSIC
PDB:2IFS\|A	441	470	1e-11	PDB
low complexity region	471	484	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000141264

SMART Domains

Protein: ENSMUSP00000119190
Gene: ENSMUSG00000075284

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
WH2	32	49	9.78e-4	SMART
low complexity region	64	108	N/A	INTRINSIC
low complexity region	141	157	N/A	INTRINSIC
low complexity region	162	175	N/A	INTRINSIC
low complexity region	185	196	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays an important role in the organization of the actin cytoskeleton. The encoded protein binds to a region of Wiskott-Aldrich syndrome protein that is frequently mutated in Wiskott-Aldrich syndrome, an X-linked recessive disorder. Impairment of the interaction between these two proteins may contribute to the disease. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutants have immunological abnormalities, although lymphocyte development appears normal. Mutants show abnormal B and T cell proliferative responses, high serum immunoglobulin levels and impaired immunological synapse formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	A	14: 118,553,352	N748Y	probably damaging	Het
Actbl2	A	G	13: 111,255,167	D12G	possibly damaging	Het
Adamts10	T	C	17: 33,528,811	S74P	probably benign	Het
Adprhl2	C	T	4: 126,317,908		probably benign	Het
Amn1	A	G	6: 149,169,446		probably null	Het
Antxr1	A	T	6: 87,287,056	I144N	probably damaging	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Cabp5	A	T	7: 13,398,344	R13*	probably null	Het
Cacna1e	A	G	1: 154,421,113	Y1669H	probably damaging	Het
Ccdc174	A	G	6: 91,898,282	E364G	possibly damaging	Het
Ccdc18	C	T	5: 108,136,052	P74S	probably damaging	Het
Clec3a	C	T	8: 114,425,500	S82L	probably benign	Het
Cnih3	A	G	1: 181,406,513	D43G	probably damaging	Het
Dpp10	G	A	1: 123,650,358	T128M	probably damaging	Het
Edar	A	T	10: 58,628,581	F79I	probably damaging	Het
Eif2ak4	T	A	2: 118,420,791	H199Q	probably benign	Het
Fermt1	A	G	2: 132,941,951	L46P	probably damaging	Het
Glipr1	A	G	10: 111,988,894		probably benign	Het
Gsdmc	T	C	15: 63,803,579	N129S	probably damaging	Het
Ift88	T	C	14: 57,481,414	S619P	possibly damaging	Het
Itga9	T	A	9: 118,850,805	V262E	probably benign	Het
Med17	G	A	9: 15,277,667	R101*	probably null	Het
Mta1	T	A	12: 113,136,583	I688N	possibly damaging	Het
Muc4	A	T	16: 32,752,076	R651S	probably benign	Het
Olfr109	C	T	17: 37,466,586	P127S	probably damaging	Het
Olfr1342	A	G	4: 118,690,341	L37P	probably damaging	Het
Olfr824	A	G	10: 130,126,904	V51A	possibly damaging	Het
Opcml	A	G	9: 28,675,264	I93V	probably damaging	Het
Parg	T	G	14: 32,262,681		probably null	Het
Rps3a3	A	G	13: 108,670,883		probably benign	Het
Safb	T	A	17: 56,600,813		probably benign	Het
Sat2	G	T	11: 69,622,749	C54F	probably damaging	Het
Scin	T	A	12: 40,077,531	Y420F	probably benign	Het
Slc22a29	A	T	19: 8,169,353	S362T	probably benign	Het
Smchd1	T	C	17: 71,431,259	D537G	probably null	Het
Spred3	A	G	7: 29,166,405	S126P	probably benign	Het
Ssh1	C	T	5: 113,942,517	E951K	probably damaging	Het
Ssmem1	A	G	6: 30,512,442	E28G	possibly damaging	Het
Stox1	A	T	10: 62,659,676		probably benign	Het
Syn3	T	C	10: 86,064,906	I373V	probably benign	Het
Tecrl	A	T	5: 83,354,827	F58L	probably benign	Het
Trp53bp1	T	C	2: 121,202,710	N1655S	possibly damaging	Het
Usp2	G	T	9: 44,091,227	Q147H	probably damaging	Het
Usp24	T	A	4: 106,407,129	N1751K	possibly damaging	Het

Other mutations in Wipf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01634:Wipf1	APN	2	73447881	missense	unknown
IGL02992:Wipf1	APN	2	73434083	missense	probably damaging	1.00
PIT1430001:Wipf1	UTSW	2	73437602	missense	probably damaging	1.00
R1553:Wipf1	UTSW	2	73437526	missense	possibly damaging	0.96
R1920:Wipf1	UTSW	2	73440155	missense	probably benign	0.11
R3154:Wipf1	UTSW	2	73437490	missense	possibly damaging	0.86
R3161:Wipf1	UTSW	2	73434949	missense	probably damaging	0.99
R3975:Wipf1	UTSW	2	73437169	missense	probably benign	0.00
R4996:Wipf1	UTSW	2	73440074	unclassified	probably benign
R5218:Wipf1	UTSW	2	73444468	missense	probably damaging	1.00
R6916:Wipf1	UTSW	2	73437404	missense	probably damaging	1.00
R7006:Wipf1	UTSW	2	73437097	missense	probably damaging	1.00
R7259:Wipf1	UTSW	2	73435081	missense	probably damaging	0.99
R7486:Wipf1	UTSW	2	73440074	unclassified	probably benign
R7689:Wipf1	UTSW	2	73432445	missense	probably damaging	0.98
R7712:Wipf1	UTSW	2	73444461	missense	probably damaging	1.00
R8094:Wipf1	UTSW	2	73437535	missense	possibly damaging	0.67
R8095:Wipf1	UTSW	2	73437535	missense	possibly damaging	0.67
R8120:Wipf1	UTSW	2	73437535	missense	possibly damaging	0.67
R8136:Wipf1	UTSW	2	73437535	missense	possibly damaging	0.67
R8150:Wipf1	UTSW	2	73437535	missense	possibly damaging	0.67
R8152:Wipf1	UTSW	2	73437535	missense	possibly damaging	0.67
R9558:Wipf1	UTSW	2	73437676	missense	probably damaging	1.00
Z1177:Wipf1	UTSW	2	73437364	missense	possibly damaging	0.49

Posted On

2015-04-16